Associated Papers
Mauriac Syndrome: Growth and Clinical Outcomes After 2.5 Years of Automated Insulin Delivery Treatment.
Alarab H et al.
Jcem Case Reports, 2026
Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.
Marianski K et al.
Human Genetics, 2025
Clinical and genetic spectrum of GSD type 6 in Korea.
Hahn JW et al.
Orphanet Journal of Rare Diseases, 2023
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
Liver histology in children with glycogen storage disorders type VI and IX.
Degrassi I et al.
Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver, 2021
A Novel, Recurrent, 3.6-kb Deletion in the PYGL Gene Contributes to Glycogen Storage Disease Type VI.
Liu B et al.
The Journal of Molecular Diagnostics : Jmd, 2020
Heterozygous Cystic Fibrosis Transmembrane Regulator Gene Missense Variants Are Associated With Worse Cardiac Function in Patients With Duchenne Muscular Dystrophy.
Jiang X et al.
Journal of the American Heart Association, 2020
Glycogen storage disease type VI can progress to cirrhosis: ten Chinese patients with GSD VI and a literature review.
Lu SQ et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2020
Exomes of Ductal Luminal Breast Cancer Patients from Southwest Colombia: Gene Mutational Profile and Related Expression Alterations.
Cortes-Urrea C et al.
Biomolecules, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Circulating Tumour DNA Analysis for Tumour Genome Characterisation and Monitoring Disease Burden in Extramedullary Multiple Myeloma.
Mithraprabhu S et al.
International Journal of Molecular Sciences, 2018
Normoglycemic Ketonemia as Biochemical Presentation in Ketotic Glycogen Storage Disease.
Hoogeveen IJ et al.
Jimd Reports, 2016
Integrated analysis of germline and somatic variants in ovarian cancer.
Kanchi KL et al.
Nature Communications, 2014
High frequency of missense mutations in glycogen storage disease type VI.
Beauchamp NJ et al.
Journal of Inherited Metabolic Disease, 2007